Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

Cryopyrin-associated periodic syndrome (CAPS) is caused by gain-of-function NLRP3 mutations. Recently, somatic NLRP3 mosaicism has been reported in some CAPS patients who were previously classified as “mutation-negative.” We describe here the clinical and laboratory findings in eight British adult p...

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Veröffentlicht in:Front Immunol
Hauptverfasser: Rowczenio, Dorota M., Gomes, Sónia Melo, Aróstegui, Juan I., Mensa-Vilaro, Anna, Omoyinmi, Ebun, Trojer, Hadija, Baginska, Anna, Baroja-Mazo, Alberto, Pelegrin, Pablo, Savic, Sinisa, Lane, Thirusha, Williams, Rene, Brogan, Paul, Lachmann, Helen J., Hawkins, Philip N.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2017
Schlagworte:
Immunology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5671490/
https://ncbi.nlm.nih.gov/pubmed/29163488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2017.01410
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